| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jennifer L Fessler, Megan A Stiles, Martin-Paul Agbaga, Mohiuddin Ahmad, David M Sherr. The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model. Cerebellum (London, England). 2024-06-08. PMID:38850484. |
the spinocerebellar ataxia 34-causing w246g elovl4 mutation does not alter cerebellar neuron populations in a rat model. |
2024-06-08 |
2024-06-11 |
human |
| Jennifer L Fessler, Megan A Stiles, Martin-Paul Agbaga, Mohiuddin Ahmad, David M Sherr. The Spinocerebellar Ataxia 34-Causing W246G ELOVL4 Mutation Does Not Alter Cerebellar Neuron Populations in a Rat Model. Cerebellum (London, England). 2024-06-08. PMID:38850484. |
spinocerebellar ataxia 34 (sca34) is an autosomal dominant disease that arises from point mutations in the fatty acid elongase, elongation of very long chain fatty acids 4 (elovl4), which is essential for the synthesis of very long chain-saturated fatty acids (vlc-sfa) and very long chain-polyunsaturated fatty acids (vlc-pufa) (28-34 carbons long). |
2024-06-08 |
2024-06-11 |
human |
| Fatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, Alice Gardham, Emma Wakeling, Harry G Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M Vaz, Aida M Bertoli-Avella, Dana Maraf. Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis. Molecular genetics & genomic medicine. 2023-08-18. PMID:37592902. |
variants in elovl4 are associated with three mendelian disorders: autosomal dominant (ad) stargardt-like macular dystrophy type 3, ad spinocerebellar ataxia, and autosomal recessive disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (isqmr). |
2023-08-18 |
2023-09-07 |
human |
| Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbag. A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications. vol 11. issue 1. 2023-08-11. PMID:37568198. |
spinocerebellar ataxia 34 (sca34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the elongation of very long chain fatty acid-4 (elovl4) gene. |
2023-08-11 |
2023-08-16 |
Not clear |
| Benjamin Ellezam, Matsanga L Kaseka, Dang Khoa Nguyen, Jean Michau. SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders. Acta neuropathologica. 2023-05-15. PMID:37184663. |
spinocerebellar ataxia 34 (sca34) is a late-onset progressive ataxia caused by a mutation in elovl4, a gene involved in the biosynthesis of very long-chain fatty acids (vlcfas). |
2023-05-15 |
2023-08-14 |
Not clear |
| Yuka Tamura, Takayuki Sassa, Takumi Nishizawa, Akio Kihar. Incomplete Elongation of Ultra-long-chain Polyunsaturated Acyl-CoAs by the Fatty Acid Elongase ELOVL4 in Spinocerebellar Ataxia Type 34. Molecular and cellular biology. 2023-02-07. PMID:36748939. |
incomplete elongation of ultra-long-chain polyunsaturated acyl-coas by the fatty acid elongase elovl4 in spinocerebellar ataxia type 34. |
2023-02-07 |
2023-08-14 |
Not clear |
| Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, Gábor M Halmágyi, Avi Fellner, Ramesh K Narayanan, Marina L Kennerson, Stephen W Reddel, Lisa Worgan, Peter K Panegyres, Kishore R Kuma. Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. Cerebellum (London, England). 2023-01-25. PMID:36696030. |
autosomal dominant variants in elovl4 cause spinocerebellar ataxia type 34 (sca34; atx-elovl4), classically associated with a skin condition known as erythrokeratoderma. |
2023-01-25 |
2023-08-14 |
Not clear |
| Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, Gábor M Halmágyi, Avi Fellner, Ramesh K Narayanan, Marina L Kennerson, Stephen W Reddel, Lisa Worgan, Peter K Panegyres, Kishore R Kuma. Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34. Cerebellum (London, England). 2023-01-25. PMID:36696030. |
we next identified an individual from another family (algerian-maltese-australian) with the same elovl4 variant with spinocerebellar ataxia but without dermatological manifestations. |
2023-01-25 |
2023-08-14 |
Not clear |
| Kokoro Ozaki, Takashi Irioka, Toshiki Uchihara, Akane Yamada, Ayako Nakamura, Takamasa Majima, Susumu Igarashi, Hiroshi Shintaku, Mayumi Yakeishi, Yukio Tsuura, Yasushi Okazaki, Kinya Ishikawa, Takanori Yokot. Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study. Acta neuropathologica communications. vol 9. issue 1. 2021-11-05. PMID:34689836. |
spinocerebellar ataxia type 34 (sca34) is an autosomal dominant inherited ataxia due to mutations in elovl4, which encodes one of the very long-chain fatty acid elongases. |
2021-11-05 |
2023-08-13 |
Not clear |
| Zijuan Wang, Zhimiao Lin, Huijun Wan. Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family. Indian journal of dermatology, venereology and leprology. 2021-10-08. PMID:34623043. |
progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to elovl4 mutation in a chinese family. |
2021-10-08 |
2023-08-13 |
Not clear |
| Martin-Paul Agbaga, Megan A Stiles, Richard S Brush, Michael T Sullivan, Adeline Machalinski, Kenneth L Jones, Robert E Anderson, David M Sherr. The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration. Molecular neurobiology. vol 57. issue 11. 2021-06-29. PMID:32780351. |
mutations in the elovl4 gene cause several distinct neurodegenerative diseases including stargardt-like macular dystrophy (stgd3), spinocerebellar ataxia 34 (sca34), and a neuro-ichthyotic syndrome with severe seizures and spasticity, as well as erythrokeratitis variabilis (ekv), a skin disorder. |
2021-06-29 |
2023-08-13 |
human |
| Kokoro Ozaki, Ayaka Ansai, Kouji Nobuhara, Toshihiko Araki, Takayuki Kubodera, Takashi Ishii, Miwa Higashi, Nozomu Sato, Kazumasa Soga, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokot. Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort. Parkinsonism & related disorders. vol 65. 2020-06-29. PMID:31105016. |
spinocerebellar ataxia (sca) type 34, a form of autosomal dominantly inherited ataxia, has recently been associated with mutations in the elovl4 gene. |
2020-06-29 |
2023-08-13 |
Not clear |
| Cynthia V Bourassa, Salmo Raskin, Sérgio Serafini, Hélio A G Teive, Patrick A Dion, Guy A Roulea. A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia. JAMA neurology. vol 72. issue 8. 2015-11-05. PMID:26258735. |
a new elovl4 mutation in a case of spinocerebellar ataxia with erythrokeratodermia. |
2015-11-05 |
2023-08-13 |
Not clear |
| Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, Nozomu Sato, Yoichiro Iikuni, Takamasa Majima, Kiyomi Yamane, Takashi Irioka, Hiroyuki Ishiura, Koichiro Doi, Shinichi Morishita, Miwa Higashi, Teruhiko Sekiguchi, Kazuo Koyama, Naohisa Ueda, Yoshiharu Miura, Satoko Miyatake, Naomichi Matsumoto, Takanori Yokota, Fumiaki Tanaka, Shoji Tsuji, Hidehiro Mizusawa, Kinya Ishikaw. A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34. JAMA neurology. vol 72. issue 7. 2015-09-24. PMID:26010696. |
a novel mutation in elovl4 leading to spinocerebellar ataxia (sca) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of sca34. |
2015-09-24 |
2023-08-13 |
Not clear |
| Maxime Cadieux-Dion, Maude Turcotte-Gauthier, Anne Noreau, Caroline Martin, Caroline Meloche, Micheline Gravel, Christian Allen Drouin, Guy A Rouleau, Dang Khoa Nguyen, Patrick Cossett. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA neurology. vol 71. issue 4. 2014-06-09. PMID:24566826. |
expanding the clinical phenotype associated with elovl4 mutation: study of a large french-canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. |
2014-06-09 |
2023-08-12 |
Not clear |